Search Results
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
… scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics … networking and community engagement. … As the pace of genomic research accelerates , understanding the role of …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
… Sarah A. Bates, M.S. … She will lead new NHGRI Office of Genomic Data Science. … The National Human Genome Research … science is a field of study that enables researchers to use powerful computational and statistical methods to decode …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… which breaks down a normal metabolic byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… technologies, genome sequencing carries the possibility of incidental or "secondary" findings that can reveal … previously unsuspected disease states. Pediatricians, in particular, face complicated ethical questions about what … group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing … including: Tracking genome sequencing and analysis costs; data production and deposition; project completion Being a … Investigator: Richard Wilson, Ph.D.  Broad Institute of MIT and Harvard , Cambridge, Massachusetts Principal …
Talking Glossary
La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para detectar y localizar una secuencia de ADN especÃfica en un cromosoma.
… Hibridación fluorescente in situ (FISH) … La hibridación fluorescente in situ (FISH) … sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide … matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us … Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples … An observational study P712 A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… …  Step 1: Referral for participation in a clinical trial  If you are referred to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will … gene therapy for sickle cell disease. We encourage you to use these educational materials to talk with your healthcare …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… to provide scientific leadership and shape direction of computational genomics in institute’s Intramural Research … the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its …
Event
NHGRI holds a pre-application webinar for potential applicants on the Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 1, 2023 at 2:00 pm ET.
… during the webinar and are encouraged to email questions in advance to Dr. Shurjo Sen at sensh@mail.nih.gov . … … … NHGRI holds a pre-application webinar about the Notice of Funding Opportunity (NOFO) RFA-HG-23-002 , for potential … Broadening Opportunities for Computational Genomics and Data Science Education NOFO … NHGRI holds a pre-application …